Gene Summary

Name:
centrosomal protein 55
Synonyms:
1200008O12Rik,  2700032M20Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
small kidney Cep55em1(IMPC)Tcp HET Late adult 0.00
abnormal ovary morphology Cep55em1(IMPC)Tcp HET Late adult 0.00
abnormal sternum morphology Cep55em1(IMPC)Tcp HET Late adult 0.00
small uterus Cep55em1(IMPC)Tcp HET Late adult 0.00
preweaning lethality, complete penetrance Cep55em1(IMPC)Tcp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Cep55em1(IMPC)Tcp HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Ophthalmoscopy

138 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

13 Images

Immunophenotyping

Panel A FCS file(s)

3 Images

Histopathology

Images

13 Images

Eye Morphology

Images Slit Lamp

42 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

MicroCT E18.5

Embryo reconstruction

6 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Human diseases caused by Cep55 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cep55 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Hydranencephaly, Renal cyst, Renal hypoplasia, Ureteral agenesis, Neonatal death, Ren... OMIM:236500

The table below shows human diseases predicted to be associated to Cep55 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Decreased CSF asialotransferrin to transferrin ratio, Lateral ventricle ... OMIM:620315
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Cerebellar dysplasia, Cerebellar hypoplasia, Ventricul... OMIM:604213
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Lateral ventricle dilatation OMIM:300982
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology ORPHA:2703
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Renal cyst OMIM:614870
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Aplasia of the inferior half of the cerebellar vermis, Hydrocephalus, Dandy-Walker malformation, ... OMIM:613154
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Pontocerebellar Hypoplasia, Type 12
Cerebellar hypoplasia, Lateral ventricle dilatation OMIM:618266
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Ectopic kidney, Hydrocephalus, Renal agenesis, Lateral ventricle dilatation... OMIM:602200
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation OMIM:615889
Lissencephaly 4
Cerebellar hypoplasia, Colpocephaly, Agenesis of corpus callosum OMIM:614019
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum, Fusion of the left and right thalami, Hypoplasia of t... OMIM:617542
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Dysgenesis of the cerebellar vermis, Hypospadias, Elongated superior cer... ORPHA:397715
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Microphthalmia-Brain Atrophy Syndrome
Cerebellar vermis atrophy, Lateral ventricle dilatation, Abnormal pons morphology ORPHA:77299
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Cerebellar hypoplasia ORPHA:1538
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Alexander Disease Type I
Hydrocephalus, Abnormal thalamic MRI signal intensity, Cerebellar atrophy ORPHA:363717
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia OMIM:123155
Joubert Syndrome 3
Nephronophthisis, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Enlarged ... OMIM:608629
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal thalamus morphology, Hypoplasia of the pons ORPHA:467166
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Lateral ventricle dilatation OMIM:618330
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebellar cyst, Increased CSF lactate, Abnormal medullary pyramid morphology, Abnormal CSF pyruv... ORPHA:79243
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar atrophy, Lateral ventricle dilata... ORPHA:300573
Cach Syndrome
T2 hypointense thalamus, Cerebellar vermis atrophy, Cerebellar atrophy, Renal hypoplasia, Lateral... ORPHA:135
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Dandy-Walker malformation, Hypoplasia of the pons, Agenesis of corpus callo... OMIM:618736
Dandy-Walker Syndrome
Hydrocephalus, Partial absence of cerebellar vermis, Dilated fourth ventricle, Agenesis of cerebe... OMIM:220200
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the ventral pons, Lateral ventricle ... OMIM:607596
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Intellectual Developmental Disorder, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Hypospadias, Cerebellar vermis hypoplasia, Dilated fourth ve... OMIM:617751
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation OMIM:613443
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:619244
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Abnormal dentate nucleus morphology, Partial agenesis of the corpus callosum, Lateral ventricle d... OMIM:619517
Craniosynostosis 6
Spina bifida occulta, Dandy-Walker malformation, Cerebellar atrophy, Agenesis of corpus callosum,... OMIM:616602
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:617296
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Cerebellar cyst, Hydrocephalus, Decreased thalamic volume, Dilated fourt... ORPHA:370959
Satoyoshi Syndrome
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal hip bone morphology, Hypoplas... ORPHA:3130
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:303350
Corpus Callosum, Partial Agenesis Of, X-Linked
Inferior cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Pa... OMIM:304100
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Cerebellar vermis hypoplasia, Extra-axial cerebrospinal fluid accumulation,... OMIM:618291
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Abnormal rib morpholog... OMIM:601076
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosum, Hypoplasia of the pons OMIM:619301
Rhombencephalosynapsis
Hydrocephalus, Abnormal dentate nucleus morphology, Abnormal renal morphology, Fusion of the left... ORPHA:59315
Adams-Oliver Syndrome 2
Hydrocephalus, Cerebellar hypoplasia, Lateral ventricle dilatation, Retrocerebellar cyst OMIM:614219
D-2-Hydroxyglutaric Aciduria 1
Glutaric aciduria, Subependymal cysts, Elevated CSF D-2-hydroxyglutaric acid concentration, Later... OMIM:600721
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy... OMIM:277000
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Neonatal death, Cerebellar hypoplasia, Ventriculomegaly, Cystic renal dysplasia OMIM:613730
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Chiari type I malformation, Renal tubular acidosis, Hydrocephalus, Dilated third ventricle, Later... OMIM:619575
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Agenesis of corpus... OMIM:619302
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence, Lateral ventricle dilatation OMIM:221770
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Cerebellar atrophy, Cerebellar hypoplasia ORPHA:488635
Severe X-Linked Intellectual Disability, Gustavson Type
Dandy-Walker malformation, Vesicoureteral reflux, Dilated fourth ventricle, Lateral ventricle dil... ORPHA:3078
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Cerebellar agenesis... OMIM:617967
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Abnormal cerebellar vermis morphology, Dilated third ventricle, Later... ORPHA:544488
Paganini-Miozzo Syndrome
Urinary incontinence, Lateral ventricle dilatation OMIM:301025
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Glutamine Deficiency, Congenital
Decreased CSF glutamine concentration, Subependymal cysts, Neonatal death, Lateral ventricle dila... OMIM:610015
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level... OMIM:612964
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Lateral ventricle dilatation ORPHA:284417
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Anorexia, Failure to thrive, Pallor ORPHA:79283
Pseudo-Torch Syndrome 2
Ventriculomegaly, Cerebellar hypoplasia, Abnormal renal corticomedullary differentiation, Lateral... OMIM:617397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly, Cerebellar hypoplasia OMIM:614830
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Ventriculomegaly, Micropenis, Dilated third ventricle ORPHA:500055
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Hypoplasia of the pons, Lateral ventricl... OMIM:618606
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Dilated third ventricle, Hydronephrosis, Lateral ventricle dilatation, Agenesis of c... ORPHA:464738
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria... ORPHA:488627
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary aminoisobutyric acid, Beta-alaninuria, Elevated urinary 3-hydroxyisobutyric acid... OMIM:614105
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:1528
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of the pons, Cerebellar dys... OMIM:613153
Autosomal Recessive Spastic Paraplegia Type 66
Cerebellar hypoplasia, Colpocephaly ORPHA:401815
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Nephrocalcinosis, Abnormal thalamus morphology ORPHA:557003
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Gómez-López-Hernández Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology ORPHA:1532
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Urinary incontinence, Dilated third ventricle, Abnormal cerebrospinal fluid m... ORPHA:314404
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Asparagine Synthetase Deficiency
Cerebellar vermis hypoplasia, Dilated third ventricle, Dilated fourth ventricle, Hypoplasia of th... OMIM:615574
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Cerebellar vermis hypoplasia, Abnormal thalamus morphology, Latera... ORPHA:300570
Intellectual Developmental Disorder, Autosomal Dominant 56
Pontocerebellar atrophy, Lateral ventricle dilatation OMIM:617854
Fried Syndrome
Hydrocephalus, Abnormal cerebellum morphology ORPHA:85335
Glutaric Acidemia I
Hydrocephalus, Glutaric aciduria, Lateral ventricle dilatation, Ketonuria OMIM:231670
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Chiari type I malformation, Hydrocephalus, Agenesis of corpus callosum, Ventriculome... OMIM:218350
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Lateral ventricle dilatation, Umbilical hernia OMIM:618914
1Q21.1 Microduplication Syndrome
Hydrocephalus, Hypospadias ORPHA:250994
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly, Cerebellar malformation ORPHA:324416
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:617690
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated ... OMIM:612310
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619203
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Lateral ventricle dilatation OMIM:256850
Joubert Syndrome 16
Dandy-Walker malformation, Nephronophthisis, Encephalocele, Renal cyst OMIM:614465
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Cerebellar atrophy, Col... OMIM:616034
Aicardi Syndrome
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Choroid plexus cyst, Dilated third ventr... OMIM:304050
Slc35A2-Cdg
Transient nephrotic syndrome, Dandy-Walker malformation, Abnormal renal morphology, Cerebellar at... ORPHA:356961
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619665
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Hypospadias, Dandy-Walker malformation, Renal cyst, Dilated... OMIM:614175
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Cerebral cortical atrophy, Dysphagia, Pallor, Pseudobulba... OMIM:606353
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Agenesis of corpus callosum OMIM:614120
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Cerebellar calcifications, Thalamic calcification OMIM:618824
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Dandy-Walker malformation, Multicystic kidney dysplasia ORPHA:3032
Kleeblattschaedel
Hydrocephalus OMIM:148800
Coach Syndrome 2
Hydrocephalus, Cerebellar vermis hypoplasia, Hyperechogenic kidneys, Agenesis of corpus callosum OMIM:619111
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... OMIM:600705
Basal Ganglia Calcification, Idiopathic, 5
Cerebellar calcifications, Thalamic calcification OMIM:615483
Pallister-Hall-Like Syndrome
Occipital encephalocele, Chiari type I malformation, Anterior hypopituitarism, Hydrocephalus, Hyp... OMIM:241800
Nephronophthisis 18
Nephronophthisis, Hydrocephalus, Thickened glomerular basement membrane, Renal tubular atrophy, S... OMIM:615862
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Cerebellar hypoplasia, Decreased thalamic volume OMIM:619072
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele, Cerebellar hypoplasia ORPHA:352682
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Acalvaria
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida ORPHA:945
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Renal cyst, Ag... OMIM:611134
Seckel Syndrome 7
Abnormal carpal morphology, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finge... OMIM:614851
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Azoospermia OMIM:613724
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Combined Oxidative Phosphorylation Defect Type 39
Abnormal cerebellum morphology, Cerebellar hypoplasia, Lateral ventricle dilatation, Increased CS... ORPHA:565624
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Cerebellar dentate nucleus calcification, Thalamic calcification OMIM:618317
Rudiger Syndrome
Bicornuate uterus, Ovarian cyst, Short digit, Ureterovesical stenosis, Micropenis OMIM:268650
Cog5-Cdg
Urinary incontinence, Neurogenic bladder, Cerebellar atrophy, Lateral ventricle dilatation, Micro... ORPHA:263487
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Vesicoureteral reflux, Colpocephaly, Agenesis of corpus callosum, Uni... OMIM:619955
Mosaic Trisomy 1
Renal cortical cysts, Cerebellar vermis hypoplasia, Renal cyst, Lateral ventricle dilatation, Cer... ORPHA:1692
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Hypospadias, Cerebellar vermis hypoplasia, Cerebellar atrophy, Hydrone... OMIM:611209
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele, Chiari malformation ORPHA:261102
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis, Cerebellar atrophy OMIM:610333
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hydrocephalus, Dilated third ventricle, Colpocephaly, Lateral ventricle dilatation OMIM:620371
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Alexander Disease
Hydrocephalus, Abnormal dentate nucleus morphology, Increased CSF protein concentration OMIM:203450
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Micropenis, Lateral ventricle dilatation OMIM:619847
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Distal Deletion 10Q
Acute kidney injury, Inferior cerebellar vermis hypoplasia, Spina bifida occulta, Vesicoureteral ... ORPHA:96148
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Hemangioblastoma
Hydrocephalus, Neurogenic bladder, Cerebellar hemangioblastoma, Cerebellar edema ORPHA:252054
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Lissencephaly 5
Hydrocephalus, Occipital encephalocele, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypop... OMIM:615191
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Dysgenesis of the cerebellar vermis, Hypospadias, Small pituitary gland, Lateral ventricle dilata... OMIM:619479
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Joubert Syndrome 18
Occipital encephalocele, Renal cyst, Agenesis of cerebellar vermis, Agenesis of corpus callosum, ... OMIM:614815
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Cerebellar atrophy OMIM:618302
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus, Calcium oxalate nephrolithiasis OMIM:248000
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Glandular hypospadias, Choroid plexus cyst, Abnormal preputium morphology, Lateral ventricle dila... ORPHA:293725
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Hydrocephalus, ... OMIM:609757
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:613155
Biemond Syndrome Type 2
Hydrocephalus, Hypospadias ORPHA:141333
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar vermis hypoplasia, Cerebellar atrophy, Dilated fourth ventricle, Lateral ventricle dil... ORPHA:572798
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Elevated circulatin... OMIM:273250
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:618577
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal localization of kidney ORPHA:83473
Meckel Syndrome 12
Rocker bottom foot, Ureteral hypoplasia, Renal hypoplasia, Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Neural Tube Defects, Susceptibility To
Urinary incontinence, Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:182940
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
6P22 Microdeletion Syndrome
Hydrocephalus, Hydronephrosis ORPHA:251046
Familial Focal Epilepsy With Variable Foci
Polymicrogyria, Pallor, Hemimegalencephaly, Focal cortical dysplasia ORPHA:98820
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c... OMIM:278850
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum ORPHA:2182
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Hydrocephalus, Hyperechogenic kidneys, Ventriculomegaly, Renal insuff... OMIM:219730
Fraser-Like Syndrome
Overlapping toe, Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Hydrocephalus, Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar hypoplasia OMIM:615181
Aicardi-Goutieres Syndrome 9
Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infections, Thickened glomerul... OMIM:619487
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Aplasia of the phalanges of the 3rd toe, Hypergonadotropi... ORPHA:2229
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation, Multicystic kidney dysplasia OMIM:607361
Houge-Janssens Syndrome 2
Hydrocephalus, Ventriculomegaly, Unilateral renal agenesis, Agenesis of corpus callosum OMIM:616362
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Umbilical hernia ORPHA:380
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, Cerebellar edema, CSF pleocytosis, Increased CSF protein ... ORPHA:363558
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion OMIM:619057
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum OMIM:307000
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cerebellar hypoplasia, Colpocephaly OMIM:618731
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of corpus callosum, ... OMIM:207950
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Fusion of the left and right thalami, Dilat... OMIM:619306
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Cerebella... OMIM:225790
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly, Nephroblastoma OMIM:602501
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Brachydactyly, Abnormal vagina morphology ORPHA:247768
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Cerebellar hypoplasia OMIM:618174
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Pallor, Dysphagia OMIM:613561
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Ventriculomegaly, Multicystic kidney dysplasia, Renal cyst, Meningocele ORPHA:2031
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle, Partial absence of cerebellar... OMIM:220220
Cyclic Vomiting Syndrome
Microcephaly, Pallor, Anorexia, Attention deficit hyperactivity disorder OMIM:500007
Peripheral Cone Dystrophy
Pallor OMIM:609021
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Vesicoureteral reflux, Decreased body weight, Microcephaly, Renal hypopla... OMIM:609053
Orofaciodigital Syndrome Type 14
Epispadias, Dandy-Walker malformation, Dilated third ventricle, Dilated fourth ventricle, Partial... ORPHA:434179
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Renal hypoplasia, Stillbirth, Hydrocephalus OMIM:276950
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Hydrocephalus, Renal agenesis, Renal hypoplasia, Umbilical hernia, Chiari malformati... ORPHA:171839
Trisomy 1Q
Congenital megaureter, Hydrocephalus, Hydronephrosis, Agenesis of corpus callosum, Cerebellar hyp... ORPHA:261344
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A... ORPHA:2795
Leigh Syndrome
3-Methylglutaconic aciduria, Abnormal thalamic MRI signal intensity, Generalized aminoaciduria, R... ORPHA:506
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Hydrocephalus, Umbilical hernia, Agenesis of corpus callosum, Cerebellar hypoplasia,... OMIM:175700
Plasminogen Deficiency, Type I
Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis, Nephritis, Cerebellar hypoplasia, Vent... OMIM:217090
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Hydrocephalus, Cerebellar vermis hypoplasia, Chronic kidney disease, Ventriculo... OMIM:615630
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Renal cyst, Colpocephaly, Agenesis of corp... OMIM:617260
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Joubert Syndrome 2
Nephronophthisis, Dysgenesis of the cerebellar vermis, Encephalocele, Elongated superior cerebell... OMIM:608091
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Agenesis of cerebellar ve... ORPHA:163961
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hydrocephalus, Myoglobinuria, Polycystic kidney dysplasia, Red... ORPHA:157
1Q44 Microdeletion Syndrome
Hydrocephalus, Vesicoureteral reflux, Agenesis of corpus callosum, Ventriculomegaly, Horseshoe ki... ORPHA:238769
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Amed Syndrome, Digenic
Hypoplasia of the uterus, Long thumb OMIM:619151
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Agitation, Polyphagia, Pallor, Small for gestational age ORPHA:324575
Joubert Syndrome 14
Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasi... OMIM:614424
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Azoospermia ORPHA:2183
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Hydranencephaly, Renal cyst, Renal hypoplasia, Ureteral agenesis, Neonatal death, Ren... OMIM:236500
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Abnormality of the diencephalon, Aplasia/Hypoplasia of the cerebellum, Abnormal re... ORPHA:2720
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis, Lateral ventricle dilatation OMIM:617557
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Increased body weight, Agitation ORPHA:276608
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Renal hypoplasia/aplasia, Hydranencephaly, Holoprosencephaly, Abnormality of the diencephalon, Ap... ORPHA:2570
Perrault Syndrome 4
Hypoplasia of the ovary, Increased circulating gonadotropin level, Hypoplasia of the uterus, Bico... OMIM:615300
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Normosmic Congenital Hypogonadotropic Hypogonadism
Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ov... ORPHA:432
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Hydronephrosis, Ure... OMIM:154230
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hydrocephalus, Myoglobinuria, Polycysti... ORPHA:228308
Meckel Syndrome, Type 2
Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Renal cyst OMIM:603194
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Bresek Syndrome
Hydrocephalus, Vesicoureteral reflux, Hypoplasia of the bladder, Renal hypoplasia, Neonatal death... ORPHA:85284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Cerebellar hemisp... OMIM:615287
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Micropenis, Lateral ventricle dilatation OMIM:263520
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Hydrocephalus, Dandy-Walker malformation, Renal cyst, ... OMIM:257300
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Pallor, Agitation, Polyphagia ORPHA:276556
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Cerebellar atrophy ORPHA:1947
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Anorexia, Isothenuria, Failure to thrive, Nephrocalcinosis, Distal renal tubular acidosis, Pallor OMIM:611590
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla... ORPHA:755
Acute Myelomonocytic Leukemia
Pallor, Weight loss ORPHA:517
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Hydrocephalus, Hydronephrosis, Spinal dysraphism,... ORPHA:1926
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation, Hypothalamic atrophy ORPHA:2822
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Panhypopituitarism, Fusion ... OMIM:610828
Panhypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Hyposthenuri... ORPHA:95513
Meckel Syndrome 13
Polycystic kidney dysplasia, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Cerebellar atrophy ORPHA:79264
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia... ORPHA:459061
Fumarase Deficiency
Cerebral atrophy, Lissencephaly, Polymicrogyria, Relative macrocephaly, Open operculum, Microceph... OMIM:606812
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Abnormal localization of kidne... ORPHA:1988
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:109120
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:300952
Weaver Syndrome
Ventriculomegaly, Cerebellar hypoplasia, Lateral ventricle dilatation, Umbilical hernia OMIM:277590
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Vesicoureteral reflux, Lateral ventricle ... OMIM:619869
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Umbilical hernia ORPHA:1516
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Urinary incontinence OMIM:236690
Rhyns Syndrome
Hypopituitarism, Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology, Increased CSF protein concentration ORPHA:88619
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Pallor, Agitation, Polyphagia ORPHA:276575
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Hyposthenuri... ORPHA:95512
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape, Abnormal thalamic MRI signal intensity, Cerebellar atrophy ORPHA:485421
Den Hoed-De Boer-Voisin Syndrome
Recurrent urinary tract infections, Ventriculomegaly, Lateral ventricle dilatation OMIM:619229
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Pallor, Agitation, Polyphagia ORPHA:276580
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Hydrocephalus, Renal cyst, Abnormality of the ureter, Hydronephrosis, A... ORPHA:1834
Thanatophoric Dysplasia Type 2
Abnormality of the kidney, Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Tay-Sachs Disease
Ventriculomegaly, Abnormal thalamic MRI signal intensity, Cerebellar atrophy ORPHA:845
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Meningocele ORPHA:588
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:620156
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hydrocephalus OMIM:269920
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Meckel Syndrome, Type 9
Occipital encephalocele, Multicystic kidney dysplasia OMIM:614209
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Hypospadias, Azoospermia, Hydrocephalus, Oligozoospermia, Ce... ORPHA:8
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia OMIM:615363
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Estrogen Resistance Syndrome
Breast hypoplasia, Delayed epiphyseal ossification, Enlarged polycystic ovaries, Increased circul... ORPHA:785
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio... ORPHA:90301
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus, Aplasia of the bladder, Renal cyst, Hepatic ... OMIM:612284
Hydranencephaly
Ventriculomegaly, Atrophic pituitary gland, Thalamic edema, Dysgenesis of the thalamus ORPHA:2177
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Hypospadias, Hydrocephalus, Dandy-Walker m... OMIM:220210
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Anter... ORPHA:91348
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, CSF lymphocytic pleiocytosis, Abnormal thalamus morphology... ORPHA:79139
Renal Tubular Dysgenesis
Renotubular dysgenesis, Proximal tubulopathy, Nephropathy, Multiple renal cysts ORPHA:3033
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology, Micropenis, Hypospadias ORPHA:2959
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Polycystic kidney dysplasia, Choroid plexus cyst, Hyperechogenic kidneys, Ventricu... OMIM:617866
Neuroferritinopathy
Abnormal dentate nucleus morphology, Abnormal thalamic MRI signal intensity, T2 hypointense thala... ORPHA:157846
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Pelvic kidney, Dandy-Walker malformation, Hydronephrosis, Agenesis of corpus callo... OMIM:613001
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Tibial torsion, Finger syndactyly, Aplasia/Hypop... ORPHA:3320
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased CSF lactate, Focal T2 hyperintense thalamic lesion OMIM:619046
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Nephropathy, Agenesis of corpus callo... ORPHA:220497
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short umbilical cord, Cerebellar atrophy, Lateral ventricle dilatation OMIM:618367
Bainbridge-Ropers Syndrome
Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation OMIM:615485
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Communicating hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Horseshoe kidney OMIM:614846
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Fanconi Anemia, Complementation Group R
Hydrocephalus, Pelvic kidney, Chiari type I malformation OMIM:617244
Nephronophthisis 14
Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology ORPHA:435638
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Chiari malformation, Aplasia/Hypoplasia of the cerebellum ORPHA:93262
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Optic Atrophy 1
Pallor OMIM:165500
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormal endometrium morphology, Abnormality of the ovary ORPHA:314478
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar cyst, Encephalocele, Hydrocephalus, Cerebellar dysplasia, Partial absence of cerebella... OMIM:613150
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Hydrocephalus, Proximal tubulopathy, Cerebellar atrophy, Hyperechogeni... OMIM:614576
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... OMIM:158330
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly, Abnormality of the kidney ORPHA:2655
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Cerebellar vermis hypoplasia, Vesicoureteral reflux, Renal cyst, Renal hypo... OMIM:618460
Temple Syndrome
Hydrocephalus, Decreased response to growth hormone stimulation test ORPHA:254516
Joubert Syndrome 1
Dysgenesis of the cerebellar vermis, Elongated superior cerebellar peduncle, Cerebellar vermis hy... OMIM:213300
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Hypoplasia of penis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum ORPHA:77298
Meningioma
Enlarged pituitary gland, Urinary incontinence, Reduced circulating prolactin concentration, Hydr... ORPHA:2495
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Dandy-Walker malformation, Renal agenesis, Increased urine alpha-ketoglutarate concentration, Ven... OMIM:220500
Leishmaniasis
Anorexia, Pallor, Skin ulcer, Weight loss ORPHA:507
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Bilateral fetal pyelectasis, Duplicated collecting system, Vesicoureteral reflux, Lateral ventric... OMIM:300868
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Lateral ven... ORPHA:177907
Walker-Warburg Syndrome
Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Cereb... ORPHA:899
Arachnoiditis
Hydrocephalus, Urinary bladder sphincter dysfunction ORPHA:137817
Hemoglobin D Disease
Pallor ORPHA:90039
Neurooculorenal Syndrome
Aqueductal stenosis, Unilateral renal agenesis, Hydrocephalus, Cerebellar vermis hypoplasia, Bila... OMIM:620305
Multiple Sulfatase Deficiency
Hydrocephalus, Cerebellar atrophy, Increased CSF protein concentration, Mucopolysacchariduria, Ve... OMIM:272200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele OMIM:615397
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Hydrocephalus, Polycystic kidney dysplasia, Cerebellar vermis hypoplasia, Renal cyst,... OMIM:210710
Stromme Syndrome
Stillbirth, Hydrocephalus, Cerebellar vermis hypoplasia, Hydronephrosis, Bilateral renal hypoplas... OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:615249
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Pallor ORPHA:49827
Acute Disseminated Encephalomyelitis
Abnormal cerebellum morphology, Abnormal thalamic MRI signal intensity, CSF lymphocytic pleiocyto... ORPHA:83597
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Umbilical hernia ORPHA:2181
Dravet Syndrome
Obsessive-compulsive trait, Global brain atrophy, Pallor, Impulsivity ORPHA:33069
Spontaneous Periodic Hypothermia
Aplasia/Hypoplasia of the corpus callosum, Pallor ORPHA:29822
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele, Small pituitary gland OMIM:614195
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly, Chiari malformation, Aplasia/Hypoplasia of the cerebellum ORPHA:60040
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Duplicated collecting system, Hydrocephalus, Pelvic kidney, Renal agenesis, Renal... OMIM:227646
Renal Cysts And Diabetes Syndrome
Hypospadias, Unilateral renal agenesis, Pancreatic hypoplasia, Bicornuate uterus, Nephrolithiasis... OMIM:137920
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma... OMIM:619895
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Aplasia/Hypopl... ORPHA:1812
Distal Triplication 15Q
Abnormality of the kidney, Hydrocephalus, Polycystic kidney dysplasia, Dandy-Walker malformation,... ORPHA:314588
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformatio... OMIM:617281
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Decreased thalamic volume, Communicating hydrocephalus ORPHA:168577
Breath-Holding Spells
Pallor OMIM:607578
Kleefstra Syndrome
Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Hydronephrosis, Micropenis, ... ORPHA:261494
Coach Syndrome 1
Occipital encephalocele, Nephronophthisis, Unilateral renal agenesis, Encephalocele, Aplasia/Hypo... OMIM:216360
Crouzon Syndrome
Hydrocephalus, Cerebellar hypoplasia, Chiari malformation ORPHA:207
Non-Functioning Paraganglioma
Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Elevated ur... ORPHA:94080
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Chiari type I malformation, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum... OMIM:618476
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Encephalocele, Renal cyst OMIM:611560
Popliteal Pterygium Syndrome
Bifid scrotum, Cutaneous finger syndactyly, Hypoplasia of the vagina, Small scrotum, Cryptorchidi... OMIM:119500
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Multicystic kidney dysplasia, Agenesis of corpus callosum ORPHA:3301
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hyperechoge... OMIM:619902
Primary Myelofibrosis
Anorexia, Purpura, Petechiae, Cachexia, Ecchymosis, Pallor ORPHA:824
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:619833
Kcnq2-Related Epileptic Encephalopathy
Cerebral atrophy, Hypoplasia of the corpus callosum, Facial erythema, Cerebral edema, Abnormal ce... ORPHA:439218
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
Czeizel-Losonci Syndrome
Congenital megaureter, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida, Urete... ORPHA:2437
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Spinal dysraphism, Apl... ORPHA:1908
Meckel Syndrome, Type 8
Occipital encephalocele, Enlarged kidney, Encephalocele, Polycystic kidney dysplasia, Hyperechoge... OMIM:613885
Trisomy 17P
Hypoplasia of penis, Hydrocephalus, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, ... ORPHA:261290
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydrocephalus, Hydronephrosis, Neonatal death, Urethral atresia OMIM:314390
Joubert Syndrome 35
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Recurrent urinary tract inf... OMIM:618161
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Renal agenesis, Renal hypoplasia, Holoprosencephaly, Agenesis of co... OMIM:264480
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Lateral ventricle dilatation, Renal insufficiency, P... OMIM:181270
Diaphanospondylodysostosis
Multiple renal cysts, Myelomeningocele ORPHA:66637
Retinitis Pigmentosa 51
Pallor, Obesity OMIM:613464
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Renal tubular acidosis, Increased CSF lactate, Renal cyst, Renal hypoplasia, Neonatal... OMIM:614922
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Emanuel Syndrome
Unilateral renal agenesis, Hydrocephalus, Dandy-Walker malformation, Renal hypoplasia, Agenesis o... ORPHA:96170
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Genitopalatocardiac Syndrome
Hydrocephalus, Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Congenital Disorder Of Glycosylation, Type Iim
Cerebellar hypoplasia, Ureteropelvic junction obstruction, Lateral ventricle dilatation, Vesicova... OMIM:300896
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Decreased response to growth hormone stimulation test, Recurrent urinary tract i... OMIM:615873
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Cerebral atrophy, Cerebellar hypoplasia, Pallor, Secondary microcephaly OMIM:613839
Fanconi Anemia, Complementation Group B
Hydrocephalus, Renal agenesis, Cerebellar hypoplasia, Ventriculomegaly, Micropenis OMIM:300514
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Hem... ORPHA:1855
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Mpdu1-Cdg
Renal cortical cysts, Ventriculomegaly, Decreased response to growth hormone stimulation test ORPHA:79323
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Dandy-Walker malformation, Cerebellar dysplasia, Cerebellar hypoplasia, Ventriculo... OMIM:617822
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly, Glomerulopathy, Hemolytic-uremic syndrome ORPHA:2169
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Hydrocephalus, Microphallus, Holoprosencephaly, Hyperechogenic kidn... OMIM:612651
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Hydrocephalus, Polycystic kidney dysplasia, Cerebellar vermis hypoplasia, Occipital ... OMIM:616546
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation, Cerebellar hypoplasia ORPHA:79332
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Neonatal death, Renal cyst OMIM:613390
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1